Disease #02157 (DDCH (deafness, dystonia, cerebral hypomyelination (DDCH, deletion syndrome, chromosome Xq28)), OMIM:300475)

Official abbreviation DDCH
Name deafness, dystonia, cerebral hypomyelination (DDCH, deletion syndrome, chromosome Xq28)
OMIM ID 300475
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene BCAP31
Associated tissues -
Disease features X-linked recessive
Remarks -


Individuals

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00305878 - - - - - - - - 0 - - DDCH deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment - BCAP31 1 1 Ni-Chung Lee
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